Annotation Detail
Information
- Associated Genes
- GLA
- Associated Variants
-
GLA p.Arg342Gln (p.R342Q), RPL36A-HNRNPH2 c.300+2617C>T
(
ENST00000409338.5,
ENST00000218516.4,
ENST00000409170.3,
ENST00000649178.1,
ENST00000675592.1,
ENST00000676156.1,
ENST00000710365.1 )
GLA p.Arg342Gln (p.R342Q), RPL36A-HNRNPH2 c.300+2617C>T ( ENST00000218516.4, ENST00000649178.1, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 ) - Associated Disease
- Fabry disease
- Source Database
- DisGeNET
- Description
- The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA).
- Pubmed
- 11531972
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.664863403274564
- Year of publication
- 2001
Drugs